Literature DB >> 23963298

Clinical utility gene card for: choroideremia.

Mariya Moosajee1, Simon C Ramsden2, Graeme C M Black2, Miguel C Seabra3, Andrew R Webster1.   

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Year:  2013        PMID： 23963298      PMCID： PMC3953909          DOI： 10.1038/ejhg.2013.183

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  17 in total

1.  Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.

Authors:  Marco Mura; Christina Sereda; Monica M Jablonski; Ian M MacDonald; Alessandro Iannaccone
Journal:  Arch Ophthalmol       Date:  2007-08

2.  Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.

Authors:  Agnes B Renner; Ulrich Kellner; Elke Cropp; Markus N Preising; Ian M MacDonald; José A J M van den Hurk; Frans P M Cremers; Michael H Foerster
Journal:  Ophthalmology       Date:  2006-08-28       Impact factor: 12.079

3.  Electroretinographic findings in selected pedigrees with choroideremia.

Authors:  P A Sieving; J H Niffenegger; E L Berson
Journal:  Am J Ophthalmol       Date:  1986-03-15       Impact factor: 5.258

4.  A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

Authors:  Sara J Bowne; Marian M Humphries; Lori S Sullivan; Paul F Kenna; Lawrence C S Tam; Anna S Kiang; Matthew Campbell; George M Weinstock; Daniel C Koboldt; Li Ding; Robert S Fulton; Erica J Sodergren; Denis Allman; Sophia Millington-Ward; Arpad Palfi; Alex McKee; Susan H Blanton; Susan Slifer; Ioanna Konidari; G Jane Farrar; Stephen P Daiger; Peter Humphries
Journal:  Eur J Hum Genet       Date:  2011-06-08       Impact factor: 4.246

5.  Copy number variant analysis in CHM to detect duplications underlying choroideremia.

Authors:  Jonathan Y Chi; Ian M MacDonald; Stacey Hume
Journal:  Ophthalmic Genet       Date:  2012-12-28       Impact factor: 1.803

6.  Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.

Authors:  Gabriella Esposito; Francesca De Falco; Nadia Tinto; Francesco Testa; Luigi Vitagliano; Igor Cristian Maria Tandurella; Lucio Iannone; Settimio Rossi; Ernesto Rinaldi; Francesca Simonelli; Adriana Zagari; Francesco Salvatore
Journal:  Hum Mutat       Date:  2011-10-11       Impact factor: 4.878

7.  CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice.

Authors:  Tanya Tolmachova; Oleg E Tolmachov; Silene T Wavre-Shapton; Dhani Tracey-White; Clare E Futter; Miguel C Seabra
Journal:  J Gene Med       Date:  2012-03       Impact factor: 4.565

8.  Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.

Authors:  I J Lorda-Sanchez; A J Ibañez; R J Sanz; M J Trujillo; M E Anabitarte; M E Querejeta; M Rodriguez de Alba; A Gimenez; F Infantes; C Ramos; B Garcia-Sandoval; C Ayuso
Journal:  Ophthalmic Genet       Date:  2000-09       Impact factor: 1.803

9.  Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3.

Authors:  Krishna Mukkamala; Ronald C Gentile; Judith Willner; Stephen Tsang
Journal:  Ophthalmic Genet       Date:  2010-12       Impact factor: 1.803

10.  The functional effect of pathogenic mutations in Rab escort protein 1.

Authors:  Y V Sergeev; N Smaoui; R Sui; D Stiles; N Gordiyenko; N Strunnikova; I M Macdonald
Journal:  Mutat Res       Date:  2009-03-13       Impact factor: 2.433
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  12 in total

1.  Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography.

Authors:  A Abbouda; A M Dubis; A R Webster; M Moosajee
Journal:  Eye (Lond)       Date:  2017-11-17       Impact factor: 3.775

2.  Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Authors:  Ruben Jauregui; Karen Sophia Park; Akemi J Tanaka; Ahra Cho; Maarjaliis Paavo; Jana Zernant; Jasmine H Francis; Rando Allikmets; Janet R Sparrow; Stephen H Tsang
Journal:  Am J Ophthalmol       Date:  2019-06-08       Impact factor: 5.258

3.  Multimodal assessment of choroideremia patients defines pre-treatment characteristics.

Authors:  Immanuel P Seitz; Ahmad Zhour; Susanne Kohl; Pablo Llavona; Tobias Peter; Barbara Wilhelm; Eberhart Zrenner; Marius Ueffing; Karl Ulrich Bartz-Schmidt; M Dominik Fischer
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2015-03-07       Impact factor: 3.117

4.  Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date.

Authors:  Vasiliki Kalatzis; Anne-Françoise Roux; Isabelle Meunier
Journal:  Mol Diagn Ther       Date:  2021-10-18       Impact factor: 4.074

5.  Progress in the development of novel therapies for choroideremia.

Authors:  Jasmina Cehajic Kapetanovic; Maria I Patrício; Robert E MacLaren
Journal:  Expert Rev Ophthalmol       Date:  2019-12-26

6.  REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.

Authors:  Dulce Lima Cunha; Rose Richardson; Dhani Tracey-White; Alessandro Abbouda; Andreas Mitsios; Verena Horneffer-van der Sluis; Panteleimon Takis; Nicholas Owen; Jane Skinner; Ailsa A Welch; Mariya Moosajee
Journal:  JCI Insight       Date:  2021-05-10

7.  The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.

Authors:  Simona Torriano; Nejla Erkilic; David Baux; Nicolas Cereso; Valerie De Luca; Isabelle Meunier; Mariya Moosajee; Anne-Francoise Roux; Christian P Hamel; Vasiliki Kalatzis
Journal:  Sci Rep       Date:  2018-05-29       Impact factor: 4.379

Review 8.  Membrane trafficking in health and disease.

Authors:  Rebecca Yarwood; John Hellicar; Philip G Woodman; Martin Lowe
Journal:  Dis Model Mech       Date:  2020-04-30       Impact factor: 5.758

9.  Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics.

Authors:  Hajrah Sarkar; Andreas Mitsios; Matthew Smart; Jane Skinner; Ailsa A Welch; Vasiliki Kalatzis; Peter J Coffey; Adam M Dubis; Andrew R Webster; Mariya Moosajee
Journal:  Hum Mol Genet       Date:  2019-06-01       Impact factor: 6.150

Review 10.  Molecular Therapies for Choroideremia.

Authors:  Jasmina Cehajic Kapetanovic; Alun R Barnard; Robert E MacLaren
Journal:  Genes (Basel)       Date:  2019-09-23       Impact factor: 4.096
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